Article
C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis.
Autophagy - 1 Sept 2020
Shao Qiang, Yang Mei, Liang Chen, Ma Li, Zhang Wei, Jiang Zhiwen, Luo Jun, Lee Jae-Kyung, Liang Chengyu, Chen Jian-Fu
Abstract excerpt
How lysosome and MTORC1 signaling interact remains elusive in terminally differentiated cells. A G4C2 repeat expansion in C9orf72 is the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (C9ALS-FTD). We previously identified a C9orf72-SMCR8-containing complex. Here we found that c9orf72 and smcr8 double-knockout (dKO) mice exhibit similar but more severe immune...
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